Canonical Allele Identifier: CA516771836

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 762594
• ClinVar RCV Id: RCV001408712
• dbSNP Id: rs137852508
• MyVariant Identifiers: chrX:g.70328186G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108336G>T , CM000685.2:g.71108336G>T	GRCh38
NC_000023.10:g.70328186G>T , CM000685.1:g.70328186G>T	GRCh37
NC_000023.9:g.70244911G>T	NCBI36
NG_009088.1:g.8218C>A , LRG_150:g.8218C>A
NG_021141.1:g.3453C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.768C>A	ENSP00000421262.2:p.Pro256=
ENST00000696903.1:n.1168C>A
ENST00000374202.7:c.865C>A MANE Select	ENSP00000363318.3:p.Arg289=
ENST00000642473.1:n.1229C>A
ENST00000644022.1:n.1131C>A
ENST00000644708.1:n.1174C>A
ENST00000644911.1:n.1271C>A
ENST00000645266.1:c.865C>A	ENSP00000493734.1:p.Arg289=
ENST00000645518.1:c.865C>A	ENSP00000493986.1:p.Arg289=
ENST00000646106.1:c.865C>A	ENSP00000496437.1:p.Arg289=
ENST00000646505.1:c.865C>A	ENSP00000496673.1:p.Arg289=
ENST00000647492.1:c.865C>A	ENSP00000495340.1:p.Arg289=
ENST00000276110.6:n.1458C>A
ENST00000374188.7:c.52C>A	ENSP00000363303.3:p.Arg18=
ENST00000374202.6:c.865C>A	ENSP00000363318.2:p.Arg289=
ENST00000456850.6:c.295C>A	ENSP00000388967.2:p.Arg99=
ENST00000482750.5:c.181C>A
ENST00000512747.3:n.1044C>A
NM_000206.2:c.865C>A , LRG_150t1:c.865C>A	NP_000197.1:p.Arg289=
NM_000206.3:c.865C>A MANE Select	NP_000197.1:p.Arg289=